VaLidity of Family History Data on Primary Adult-Onset Dystonia

Davide Martino, Maria S. Aniello, Gianluca Masi, Paolo Lamberti, Valeria Lucchese, Simona Lamberti, Paolo Livrea, AlfredoNeurological Berardelli, Giovanni Defazio

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Background: To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia. Objective: To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives. Participants: Seventy probands with primary adult-onset dystonia were asked to identify first-degree relatives who had dystonia. Available relatives were then directly examined by a trained neurologist. The validity of the probands' reports was tested against the neurologists' diagnoses. Results: Among 300 first-degree relatives who were examined, 26 received a diagnosis of dystonia. Only 7 of the 26 were identified by the probands' reports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probands' reports therefore yielded a sensitivity of 27.0% and a specificity of 98.2%. Conclusions: Because the family history method yields low sensitivity and incurs a risk of misclassification, it is of limited use in family studies of adult-onset dystonia. The only valid means of ascertaining dystonia among relatives remains neurological examination of at-risk subjects.

Original languageEnglish
Pages (from-to)1569-1573
Number of pages5
JournalArchives of Neurology
Volume61
Issue number10
DOIs
Publication statusPublished - Oct 2004

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Dystonic Disorders
Dystonia
Onset
Family History
Neurologic Examination
Sensitivity and Specificity

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Martino, D., Aniello, M. S., Masi, G., Lamberti, P., Lucchese, V., Lamberti, S., ... Defazio, G. (2004). VaLidity of Family History Data on Primary Adult-Onset Dystonia. Archives of Neurology, 61(10), 1569-1573. https://doi.org/10.1001/archneur.61.10.1569

VaLidity of Family History Data on Primary Adult-Onset Dystonia. / Martino, Davide; Aniello, Maria S.; Masi, Gianluca; Lamberti, Paolo; Lucchese, Valeria; Lamberti, Simona; Livrea, Paolo; Berardelli, AlfredoNeurological; Defazio, Giovanni.

In: Archives of Neurology, Vol. 61, No. 10, 10.2004, p. 1569-1573.

Research output: Contribution to journalArticle

Martino, D, Aniello, MS, Masi, G, Lamberti, P, Lucchese, V, Lamberti, S, Livrea, P, Berardelli, A & Defazio, G 2004, 'VaLidity of Family History Data on Primary Adult-Onset Dystonia', Archives of Neurology, vol. 61, no. 10, pp. 1569-1573. https://doi.org/10.1001/archneur.61.10.1569
Martino D, Aniello MS, Masi G, Lamberti P, Lucchese V, Lamberti S et al. VaLidity of Family History Data on Primary Adult-Onset Dystonia. Archives of Neurology. 2004 Oct;61(10):1569-1573. https://doi.org/10.1001/archneur.61.10.1569
Martino, Davide ; Aniello, Maria S. ; Masi, Gianluca ; Lamberti, Paolo ; Lucchese, Valeria ; Lamberti, Simona ; Livrea, Paolo ; Berardelli, AlfredoNeurological ; Defazio, Giovanni. / VaLidity of Family History Data on Primary Adult-Onset Dystonia. In: Archives of Neurology. 2004 ; Vol. 61, No. 10. pp. 1569-1573.
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